ClinVar Miner

List of variants in gene SMAD4 studied for not provided

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Gene type:
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Total variants: 178
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HGVS dbSNP
NM_005359.5(SMAD4):c.10_11delAT (p.Met4Valfs) rs1064796471
NM_005359.5(SMAD4):c.1134_1135delAG (p.Arg378Serfs) rs1555686503
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.1549_1550delAG (p.Ser517Hisfs) rs377767373
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) rs1060500739
NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG (p.Ser223Argfs) rs1064793271
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.5(SMAD4):c.752delA (p.Asn251Metfs) rs1555685925
NM_005359.6(SMAD4):c.-127-306G>A rs67325153
NM_005359.6(SMAD4):c.-128+19C>T rs974217374
NM_005359.6(SMAD4):c.-128+6C>T rs1023427434
NM_005359.6(SMAD4):c.-39T>A rs1057523754
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) rs773598775
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1050T>G (p.Val350=) rs1599195447
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) rs377767346
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694
NM_005359.6(SMAD4):c.1119A>T (p.Thr373=) rs1166695591
NM_005359.6(SMAD4):c.1140-10T>C rs186332162
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-1G>A rs1555686594
NM_005359.6(SMAD4):c.1140-256G>A rs2509999
NM_005359.6(SMAD4):c.1140-6C>T rs1599196889
NM_005359.6(SMAD4):c.1146C>T (p.His382=) rs1599196919
NM_005359.6(SMAD4):c.115delinsAA (p.Ala39fs) rs1555685014
NM_005359.6(SMAD4):c.1200G>A (p.Arg400=) rs876658516
NM_005359.6(SMAD4):c.1216G>A (p.Ala406Thr) rs794726995
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) rs1064796102
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.1229_1230AG[1] (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) rs786202472
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His) rs1064793725
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) rs1406947861
NM_005359.6(SMAD4):c.1269A>C (p.Gly423=) rs1052676207
NM_005359.6(SMAD4):c.1287C>T (p.Ile429=) rs1555686621
NM_005359.6(SMAD4):c.1309-67G>C rs79051374
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) rs730881957
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791
NM_005359.6(SMAD4):c.1353G>T (p.Ala451=) rs1441353791
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile) rs786205514
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261
NM_005359.6(SMAD4):c.1447+257T>C rs2298617
NM_005359.6(SMAD4):c.1448-7C>T rs1599205183
NM_005359.6(SMAD4):c.1449T>C (p.Ser483=) rs745598003
NM_005359.6(SMAD4):c.144G>A (p.Lys48=) rs1057523437
NM_005359.6(SMAD4):c.1464T>G (p.Ala488=) rs1555687539
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) rs1057520520
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) rs772479430
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) rs1599205322
NM_005359.6(SMAD4):c.1514_1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1530A>G (p.Gly510=) rs1568211560
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1590C>T (p.His530=) rs935557677
NM_005359.6(SMAD4):c.1596C>T (p.Ala532=) rs765606080
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn) rs730881955
NM_005359.6(SMAD4):c.1641C>T (p.Asp547=) rs1057523337
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) rs1064793950
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.6(SMAD4):c.178G>A (p.Ala60Thr)
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204
NM_005359.6(SMAD4):c.186T>A (p.Thr62=) rs1599181199
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) rs1064795777
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.6(SMAD4):c.231A>G (p.Thr77=) rs760990830
NM_005359.6(SMAD4):c.232T>C (p.Leu78=) rs1599181244
NM_005359.6(SMAD4):c.238G>A (p.Gly80Arg)
NM_005359.6(SMAD4):c.249+135T>C rs564167931
NM_005359.6(SMAD4):c.249+20T>C rs780723246
NM_005359.6(SMAD4):c.249+215A>G rs16952779
NM_005359.6(SMAD4):c.249+300del rs139940554
NM_005359.6(SMAD4):c.250-15C>T rs375910294
NM_005359.6(SMAD4):c.250-2A>G rs1555685142
NM_005359.6(SMAD4):c.255T>G (p.Ala85=) rs1555685152
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162
NM_005359.6(SMAD4):c.282C>T (p.Ile94=) rs1599182415
NM_005359.6(SMAD4):c.285T>C (p.Tyr95=) rs1599182420
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer) rs727504151
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) rs1064794363
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.6(SMAD4):c.360C>T (p.Asp120=) rs1599182483
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) rs150229208
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.6(SMAD4):c.390A>T (p.Pro130=) rs755862230
NM_005359.6(SMAD4):c.402A>G (p.Glu134=) rs1599182556
NM_005359.6(SMAD4):c.403C>A (p.Arg135=) rs377767326
NM_005359.6(SMAD4):c.408T>C (p.Val136=) rs1283790116
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.425-6A>G rs377767327
NM_005359.6(SMAD4):c.435A>G (p.Gly145=) rs1599182895
NM_005359.6(SMAD4):c.454+8A>T rs864622099
NM_005359.6(SMAD4):c.455-4A>G rs1599186761
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005359.6(SMAD4):c.455C>A (p.Ala152Asp) rs1568204964
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005359.6(SMAD4):c.516G>A (p.Leu172=) rs1392368498
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) rs368528856
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) rs542392980
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) rs770798845
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) rs761936246
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) rs587780792
NM_005359.6(SMAD4):c.576A>G (p.Thr192=) rs1599186950
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) rs199809905
NM_005359.6(SMAD4):c.639C>T (p.Asn213=) rs878854767
NM_005359.6(SMAD4):c.642T>C (p.Phe214=) rs1281575334
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) rs1064793270
NM_005359.6(SMAD4):c.648C>T (p.Asn216=) rs1599187091
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) rs770461626
NM_005359.6(SMAD4):c.667+10A>G rs200331016
NM_005359.6(SMAD4):c.667+238C>A rs8096092
NM_005359.6(SMAD4):c.668-7C>T rs1060504028
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) rs1280682459
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) rs759679579
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910
NM_005359.6(SMAD4):c.721G>A (p.Ala241Thr) rs1599189522
NM_005359.6(SMAD4):c.723A>T (p.Ala241=) rs1599189527
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.749A>G (p.Gln250Arg) rs879254159
NM_005359.6(SMAD4):c.787+7A>G rs779803439
NM_005359.6(SMAD4):c.790A>G (p.Ser264Gly) rs587780125
NM_005359.6(SMAD4):c.799A>C (p.Thr267Pro) rs1064793728
NM_005359.6(SMAD4):c.810A>C (p.Gly270=) rs1599189762
NM_005359.6(SMAD4):c.822A>C (p.Ala274=) rs1599189780
NM_005359.6(SMAD4):c.822_823delinsCG (p.Pro275Ala) rs1599189787
NM_005359.6(SMAD4):c.823C>G (p.Pro275Ala) rs1599189789
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala) rs1555685960
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) rs778465458
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.6(SMAD4):c.870C>T (p.His290=) rs1060504029
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr) rs863224733
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) rs753358186
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) rs370176106
NM_005359.6(SMAD4):c.885G>T (p.Pro295=) rs772028872
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) rs781519690
NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter) rs746084369
NM_005359.6(SMAD4):c.904+137T>G rs193237226
NM_005359.6(SMAD4):c.905-9T>C rs1064795175
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.914A>C (p.His305Pro) rs1555686072
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) rs730881953
NM_005359.6(SMAD4):c.945C>T (p.Ser315=) rs1408798906
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) rs773615487
NM_005359.6(SMAD4):c.955+7G>A rs200386455
NM_005359.6(SMAD4):c.956-7C>T rs778959035
NM_005359.6(SMAD4):c.970T>C (p.Cys324Arg) rs377767339
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324

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